ClinVar for MedGen (Select 370910) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258094	NM_001083962.2(TCF4):c.1915dup (p.Arg639fs)	TCF4 (R423fs +21 more)	Duplication (frameshift variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 3255078	NM_001083962.2(TCF4):c.1650-3C>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 3255075	NM_001083962.2(TCF4):c.891del (p.Pro298fs)	LOC126862757, TCF4 (P138fs +11 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 3242759	NC_000018.9:g.(?_53017570)_(53131388_?)del	TCF4	Deletion	Pitt-Hopkins syndrome	GPathogenic
Select item 3242758	NC_000018.9:g.(?_52921708)_(53254347_?)del	TCF4	Deletion	Pitt-Hopkins syndrome	GPathogenic
Select item 3235863	NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln)	TCF4 (R353Q +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 3066000	NM_001083962.2(TCF4):c.831del (p.Pro278fs)	LOC126862757, TCF4 (P118fs +11 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 3065179	NM_001083962.2(TCF4):c.1534G>T (p.Glu512Ter)	TCF4 (E296* +13 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 3024324	NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)	TCF4 (Y108fs +11 more)	Insertion (frameshift variant)	Pitt-Hopkins syndrome +1 more	GPathogenic
Select item 3024315	NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)	TCF4 (K33fs +5 more)	Deletion (frameshift variant +1 more)	Pitt-Hopkins syndrome +1 more	GPathogenic
Select item 3016155	NM_001083962.2(TCF4):c.1785G>A (p.Val595=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 3013491	NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys)	TCF4, TCF4-AS1 (S12C +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 3009700	NM_001083962.2(TCF4):c.655+16T>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 3007787	NM_001083962.2(TCF4):c.369+17G>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 3004682	NM_001083962.2(TCF4):c.500-12A>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 3002500	NM_001083962.2(TCF4):c.1578G>A (p.Thr526=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2996306	NM_001083962.2(TCF4):c.263A>G (p.His88Arg)	TCF4, TCF4-AS1 (H88R +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2989923	NM_001083962.2(TCF4):c.655+20G>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2983854	NM_001083962.2(TCF4):c.201G>T (p.Pro67=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2916498	NM_001083962.2(TCF4):c.304A>T (p.Ser102Cys)	TCF4, TCF4-AS1 (S102C +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2914916	NM_001083962.2(TCF4):c.1524T>A (p.Ser508=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2905544	NM_001083962.2(TCF4):c.1593C>T (p.Asp531=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome +1 more	GLikely benign
Select item 2900433	NM_001083962.2(TCF4):c.817A>G (p.Ile273Val)	LOC126862757, TCF4 (I202V +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2900415	NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala)	LOC126862757, TCF4 (T240A +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2895871	NM_001083962.2(TCF4):c.499+15T>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2895822	NM_001083962.2(TCF4):c.699G>A (p.Met233Ile)	TCF4 (M103I +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2893886	NM_001083962.2(TCF4):c.1038A>T (p.Ser346=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2887622	NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys)	LOC121627832, TCF4 (R413C +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2886122	NM_001083962.2(TCF4):c.991-18T>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2885933	NM_001083962.2(TCF4):c.180G>A (p.Gly60=)	TCF4, TCF4-AS1	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2881820	NM_001083962.2(TCF4):c.1879+4A>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2881722	NM_001083962.2(TCF4):c.1650-7C>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2877535	NM_001083962.2(TCF4):c.747A>G (p.Pro249=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2873743	NM_001083962.2(TCF4):c.1649+9A>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2867284	NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr)	LOC121627832, TCF4 (H293Y +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2863200	NM_001083962.2(TCF4):c.208-13A>G	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2851285	NM_001083962.2(TCF4):c.1356G>T (p.Gly452=)	LOC121627832, TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2850014	NM_001083962.2(TCF4):c.73A>T (p.Met25Leu)	TCF4 (M25L +3 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2847900	NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp)	TCF4 (G127D +7 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2846666	NM_001083962.2(TCF4):c.146-1G>A	TCF4, TCF4-AS1	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 2843609	NM_001083962.2(TCF4):c.1134C>G (p.Pro378=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2838962	NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp)	TCF4 (E425D +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2837550	NM_001083962.2(TCF4):c.499+5_499+6dup	TCF4	Duplication (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2836079	NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser)	TCF4 (N314S +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2835744	NM_001083962.2(TCF4):c.1694G>A (p.Arg565His)	TCF4 (R349H +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2833743	NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr)	TCF4 (S398Y +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2833268	NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu)	TCF4 (S114L +5 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2826829	NM_001083962.2(TCF4):c.72+12C>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2826248	NM_001083962.2(TCF4):c.145+18T>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2824393	NM_001083962.2(TCF4):c.1951C>A (p.Pro651Thr)	TCF4 (P521T +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2824148	NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro)	TCF4, TCF4-AS1 (S189P +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2821339	NM_001083962.2(TCF4):c.73-20T>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2821006	NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg)	TCF4 (G113R +1 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2819323	NM_001083962.2(TCF4):c.414C>T (p.Thr138=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2819320	NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp)	TCF4 (G118D +5 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2815654	NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp)	TCF4 (N149D +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2815617	NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe)	TCF4 (I380F +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2810175	NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs)	TCF4 (R286fs +13 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 2808889	NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs)	TCF4 (G374fs +13 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 2805879	NM_001083962.2(TCF4):c.990+16C>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2795036	NM_001083962.2(TCF4):c.41_62del (p.Lys14fs)	TCF4 (K116fs +1 more)	Deletion (frameshift variant +1 more)	Pitt-Hopkins syndrome	GPathogenic
Select item 2793128	NM_001083962.2(TCF4):c.345A>G (p.Glu115=)	TCF4	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins syndrome	GLikely benign
Select item 2790190	NM_001083962.2(TCF4):c.1080T>C (p.Ala360=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2789357	NM_001083962.2(TCF4):c.2015A>G (p.Ter672=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2784499	NM_001083962.2(TCF4):c.21G>A (p.Met7Ile)	TCF4 (M109I +1 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GLikely benign
Select item 2782042	NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn)	TCF4 (S100N +7 more)	Single nucleotide variant (missense variant +1 more)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2781952	NM_001083962.2(TCF4):c.789G>A (p.Leu263=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2779351	NM_001083962.2(TCF4):c.1206C>T (p.Asn402=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2776621	NM_001083962.2(TCF4):c.1069+8A>T	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2770603	NM_001083962.2(TCF4):c.72+8A>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2769049	NM_001083962.2(TCF4):c.1585del (p.Ser529fs)	TCF4 (S369fs +13 more)	Deletion (frameshift variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 2769038	NM_001083962.2(TCF4):c.550-20A>T	TCF4	Single nucleotide variant (intron variant +1 more)	Pitt-Hopkins syndrome	GLikely benign
Select item 2766003	NM_001083962.2(TCF4):c.802C>T (p.His268Tyr)	LOC126862757, TCF4 (H243Y +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2757484	NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu)	LOC121627832, TCF4 (V235L +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2754982	NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala)	TCF4 (P431A +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2753556	NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly)	TCF4 (E417G +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GPathogenic
Select item 2747192	NM_001083962.2(TCF4):c.552C>G (p.Val184=)	TCF4	Single nucleotide variant (synonymous variant +1 more)	Pitt-Hopkins syndrome	GLikely benign
Select item 2744298	NM_001083962.2(TCF4):c.500-11T>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2743212	NM_001083962.2(TCF4):c.723G>A (p.Met241Ile)	TCF4 (M170I +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2737292	NM_001083962.2(TCF4):c.500-16C>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2735108	NM_001083962.2(TCF4):c.499+18T>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2733092	NM_001083962.2(TCF4):c.370-3T>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2730932	NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys)	TCF4 (E561K +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2728187	NM_001083962.2(TCF4):c.118T>C (p.Leu40=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2726334	NM_001083962.2(TCF4):c.207+16C>A	TCF4, TCF4-AS1	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2724826	NM_001083962.2(TCF4):c.923-20T>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2724127	NM_001083962.2(TCF4):c.1463A>G (p.Asn488Ser)	TCF4 (N463S +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2718894	NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys)	TCF4, TCF4-AS1 (I202K +4 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2718778	NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val)	TCF4 (G287V +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2718694	NM_001083962.2(TCF4):c.1351-10G>A	LOC121627832, TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2718560	NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu)	TCF4 (D332E +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2713485	NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser)	TCF4 (P341S +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2712303	NM_001083962.2(TCF4):c.789+9G>C	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2712054	NM_001083962.2(TCF4):c.1833C>G (p.Leu611=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2709406	NM_001083962.2(TCF4):c.73-16T>G	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2707842	NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr)	TCF4 (H338Y +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2703403	NM_001083962.2(TCF4):c.941C>T (p.Ala314Val)	TCF4 (A184V +11 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2700849	NM_001083962.2(TCF4):c.117T>C (p.Ser39=)	TCF4	Single nucleotide variant (synonymous variant)	Pitt-Hopkins syndrome	GLikely benign
Select item 2699156	NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro)	TCF4 (L445P +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GUncertain significance
Select item 2696350	NM_001083962.2(TCF4):c.922+12A>G	LOC126862757, TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome	GLikely benign

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