1285[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 334745	NM_000092.4(COL4A4):c.-408G>A	COL4A4, COL4A3	Single nucleotide variant	Benign familial hematuria +3 more	GUncertain significance
Select item 334748	NM_000091.4(COL4A3):c.-146G>C	COL4A3	Single nucleotide variant	Alport syndrome	GUncertain significance
Select item 334749	NM_000091.4(COL4A3):c.-134T>C	COL4A3	Single nucleotide variant	Alport syndrome	GUncertain significance
Select item 334750	NM_000091.5(COL4A3):c.-81G>C	COL4A3	Single nucleotide variant (5 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 668426	NM_000091.5(COL4A3):c.-26G>T	COL4A3, LOC129935730	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334751	NM_000091.5(COL4A3):c.-16T>C	COL4A3, LOC129935730	Single nucleotide variant (5 prime UTR variant)	Alport syndrome	GUncertain significance
Select item 334752	NM_000091.5(COL4A3):c.-13G>C	COL4A3, LOC129935730	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 898879	NM_000091.5(COL4A3):c.-10C>T	COL4A3, LOC129935730	Single nucleotide variant (5 prime UTR variant)	Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1911793	NM_000091.5(COL4A3):c.1A>G (p.Met1Val)	COL4A3, LOC129935730 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 555012	NM_000091.5(COL4A3):c.1A>C (p.Met1Leu)	COL4A3, LOC129935730 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556991	NM_000091.5(COL4A3):c.2T>C (p.Met1Thr)	COL4A3, LOC129935730 (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1566459	NM_000091.5(COL4A3):c.6C>T (p.Ser2=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304000	NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)	COL4A3, LOC129935730 (R4Q)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +3 more	GUncertain significance
Select item 1604079	NM_000091.5(COL4A3):c.12G>T (p.Arg4=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022347	NM_000091.5(COL4A3):c.15C>G (p.Thr5=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613040	NM_000091.5(COL4A3):c.15C>T (p.Thr5=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592233	NM_000091.5(COL4A3):c.15C>A (p.Thr5=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696080	NM_000091.5(COL4A3):c.16G>T (p.Ala6Ser)	COL4A3, LOC129935730 (A6S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2697757	NM_000091.5(COL4A3):c.17C>A (p.Ala6Asp)	COL4A3, LOC129935730 (A6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995195	NM_000091.5(COL4A3):c.18C>T (p.Ala6=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870067	NM_000091.5(COL4A3):c.21C>T (p.Pro7=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517578	NM_000091.5(COL4A3):c.21C>A (p.Pro7=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1118219	NM_000091.5(COL4A3):c.22A>C (p.Arg8=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386500	NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	COL4A3, LOC129935730 (P9S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2501557	NM_000091.5(COL4A3):c.26C>T (p.Pro9Leu)	COL4A3, LOC129935730 (P9L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2038717	NM_000091.5(COL4A3):c.27G>C (p.Pro9=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150221	NM_000091.5(COL4A3):c.27G>T (p.Pro9=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137834	NM_000091.5(COL4A3):c.27G>A (p.Pro9=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807562	NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)	LOC129935730, COL4A3 (Q10*)	Single nucleotide variant (nonsense)	Autosomal recessive Alport syndrome +1 more	GPathogenic
Select item 2801051	NM_000091.5(COL4A3):c.29A>G (p.Gln10Arg)	COL4A3, LOC129935730 (Q10R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1927349	NM_000091.5(COL4A3):c.30G>A (p.Gln10=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 192299	NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	COL4A3, LOC129935730	Deletion (inframe_deletion)	COL4A3-related condition +4 more	GPathogenic
Select item 958392	NM_000091.5(COL4A3):c.33del (p.Leu12fs)	COL4A3, LOC129935730 (L12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 719406	NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)	COL4A3, LOC129935730	Deletion (inframe_indel +1 more)	not provided +5 more	GLikely benign
Select item 1637871	NM_000091.5(COL4A3):c.36C>A (p.Leu12=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898880	NM_000091.5(COL4A3):c.36C>T (p.Leu12=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 553669	NM_000091.5(COL4A3):c.39_47dup (p.Pro15_Leu17dup)	COL4A3, LOC129935730	Duplication (inframe_insertion)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1548539	NM_000091.5(COL4A3):c.39G>T (p.Leu13=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1009633	NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)	COL4A3, LOC129935730 (P15R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1549746	NM_000091.5(COL4A3):c.45G>T (p.Pro15=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753430	NM_000091.5(COL4A3):c.45G>A (p.Pro15=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	Autosomal dominant Alport syndrome +3 more	GBenign/Likely benign
Select item 2000950	NM_000091.5(COL4A3):c.48C>T (p.Leu16=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1122861	NM_000091.5(COL4A3):c.48C>G (p.Leu16=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891402	NM_000091.5(COL4A3):c.52C>T (p.Leu18=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179064	NM_000091.5(COL4A3):c.54G>A (p.Leu18=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637114	NM_000091.5(COL4A3):c.60C>A (p.Leu20=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765560	NM_000091.5(COL4A3):c.60C>T (p.Leu20=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695091	NM_000091.5(COL4A3):c.62T>A (p.Leu21Gln)	COL4A3, LOC129935730 (L21Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004853	NM_000091.5(COL4A3):c.63G>A (p.Leu21=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084791	NM_000091.5(COL4A3):c.66G>C (p.Ala22=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125295	NM_000091.5(COL4A3):c.68del (p.Ala23fs)	COL4A3, LOC129935730 (A23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1579005	NM_000091.5(COL4A3):c.69G>C (p.Ala23=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158268	NM_000091.5(COL4A3):c.69G>T (p.Ala23=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 499491	NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly)	COL4A3, LOC129935730 (A24G)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 2995196	NM_000091.5(COL4A3):c.72G>T (p.Ala24=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 255004	NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser)	COL4A3, LOC129935730 (P25S)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 2757424	NM_000091.5(COL4A3):c.75C>A (p.Pro25=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105202	NM_000091.5(COL4A3):c.75C>G (p.Pro25=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893576	NM_000091.5(COL4A3):c.80C>A (p.Ala27Asp)	COL4A3, LOC129935730 (A27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705309	NM_000091.5(COL4A3):c.81C>T (p.Ala27=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1677160	NM_000091.5(COL4A3):c.86A>G (p.Lys29Arg)	COL4A3, LOC129935730 (K29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1334515	NM_000091.5(COL4A3):c.86A>T (p.Lys29Met)	LOC129935730, COL4A3 (K29M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306182	NM_000091.5(COL4A3):c.87G>A (p.Lys29=)	COL4A3, LOC129935730	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2730035	NM_000091.5(COL4A3):c.87+1G>A	COL4A3, LOC129935730	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1383082	NM_000091.5(COL4A3):c.87+3G>A	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 792255	NM_000091.5(COL4A3):c.87+7G>T	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	Alport syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1807158	NM_000091.5(COL4A3):c.87+8G>C	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1148121	NM_000091.5(COL4A3):c.87+8G>A	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1115035	NM_000091.5(COL4A3):c.87+9G>C	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112683	NM_000091.5(COL4A3):c.87+10G>A	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782140	NM_000091.5(COL4A3):c.87+12C>G	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782141	NM_000091.5(COL4A3):c.87+15C>G	COL4A3, LOC129935730	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703267	NM_000091.5(COL4A3):c.87+24dup	COL4A3, LOC129935730	Duplication (intron variant)	not provided	GBenign
Select item 2808444	NM_000091.5(COL4A3):c.87+24del	COL4A3, LOC129935730	Deletion (intron variant)	not provided	GBenign
Select item 857806	NM_000091.5(COL4A3):c.88-5976_195del	COL4A3, MFF-DT	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3023863	NM_000091.5(COL4A3):c.88-27_88-19del	COL4A3, MFF-DT	Deletion (intron variant)	not provided	GLikely benign
Select item 2778966	NM_000091.5(COL4A3):c.88-19T>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869435	NM_000091.5(COL4A3):c.88-18C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2141413	NM_000091.5(COL4A3):c.88-18C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554577	NM_000091.5(COL4A3):c.88-10C>G	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255008	NM_000091.5(COL4A3):c.88-4C>T	COL4A3, MFF-DT	Single nucleotide variant (intron variant)	Alport syndrome +3 more	GBenign
Select item 562460	NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg)	MFF-DT, COL4A3 (G30R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1153671	NM_000091.5(COL4A3):c.90T>C (p.Gly30=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075091	NM_000091.5(COL4A3):c.92_95dup (p.Lys34fs)	COL4A3, MFF-DT (K34fs)	Microsatellite (frameshift variant)	Autosomal dominant Alport syndrome +3 more	GPathogenic
Select item 1725980	NM_000091.5(COL4A3):c.94_95del (p.Val32fs)	COL4A3, MFF-DT (V32fs)	Microsatellite (frameshift variant)	Autosomal recessive Alport syndrome	GLikely pathogenic
Select item 1906392	NM_000091.5(COL4A3):c.96C>T (p.Val32=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829490	NM_000091.5(COL4A3):c.99T>C (p.Cys33=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 334753	NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)	COL4A3, MFF-DT (Q38E)	Single nucleotide variant (missense variant)	COL4A3-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3002050	NM_000091.5(COL4A3):c.120C>T (p.Phe40=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066088	NM_000091.5(COL4A3):c.123_124delinsAA (p.Cys41_Asp42delinsTer)	MFF-DT, COL4A3 (C41*)	Indel (nonsense)	Autosomal dominant Alport syndrome	GLikely pathogenic
Select item 1122365	NM_000091.5(COL4A3):c.126C>T (p.Asp42=)	COL4A3, MFF-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963194	NM_000091.5(COL4A3):c.127G>A (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 254978	NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)	COL4A3, MFF-DT (G43R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +4 more	GBenign

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