23414[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57335	GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1	ABRA, ANGPT1 +30 more	Copy number loss	See cases	GPathogenic
Select item 153925	GRCh38/hg38 8q22.3-23.1(chr8:105081855-105886355)x3	LINC03084, LOC110120608 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1233669	NM_012082.4(ZFPM2):c.-73_-65dup	ZFPM2	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 3033583	NM_012082.4(ZFPM2):c.10C>T (p.Arg4Ter)	ZFPM2 (R4*)	Single nucleotide variant (nonsense)	ZFPM2-related disorder	GLikely pathogenic
Select item 696237	NM_012082.4(ZFPM2):c.27C>G (p.Pro9=)	ZFPM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978007	NM_012082.4(ZFPM2):c.40+11G>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 1558608	NM_012082.4(ZFPM2):c.40+12C>G	ZFPM2	Single nucleotide variant (intron variant)	Diaphragmatic hernia 3 +2 more	GBenign/Likely benign
Select item 149214	GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3	LOC110121208, LOC113783881 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148739	GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3	LOC110121208, LOC113783881 +8 more	Copy number gain	See cases	GLikely benign
Select item 2915136	NM_012082.4(ZFPM2):c.41-10C>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 544222	NM_012082.4(ZFPM2):c.41-4C>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 698860	NM_012082.4(ZFPM2):c.57C>T (p.Ala19=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 3334556	NM_012082.4(ZFPM2):c.58A>G (p.Ile20Val)	ZFPM2 (I20V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1102963	NM_012082.4(ZFPM2):c.72A>G (p.Glu24=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 1315740	NM_012082.4(ZFPM2):c.73G>A (p.Glu25Lys)	ZFPM2 (E25K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1058526	NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly)	ZFPM2 (E25G)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GUncertain significance
Select item 1952345	NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 6128	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	ZFPM2 (E30G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 2043684	NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)	ZFPM2	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely benign
Select item 1061068	NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)	ZFPM2 (P41A)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2497771	NM_012082.4(ZFPM2):c.125T>G (p.Leu42Trp)	ZFPM2 (L42W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 633465	NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)	ZFPM2 (E44K)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9 +1 more	GConflicting classifications of pathogenicity
Select item 3364722	NM_012082.4(ZFPM2):c.134G>A (p.Ser45Asn)	ZFPM2 (S45N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2073600	NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)	ZFPM2 (C64Y)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GBenign
Select item 1299632	NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp)	ZFPM2 (C64W)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9	GLikely pathogenic
Select item 1642653	NM_012082.4(ZFPM2):c.200-8T>G	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 544221	NM_012082.4(ZFPM2):c.240G>T (p.Gly80=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 2702531	NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)	ZFPM2 (D81N +1 more)	Single nucleotide variant (missense variant +1 more)	46,XY sex reversal 9	GUncertain significance
Select item 2628644	NM_012082.4(ZFPM2):c.251C>T (p.Ser84Leu)	ZFPM2 (S31L +1 more)	Single nucleotide variant (missense variant +1 more)	ZFPM2-related disorder	GUncertain significance
Select item 1168530	NM_012082.4(ZFPM2):c.258A>G (p.Lys86=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GBenign
Select item 2146910	NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 1538937	NM_012082.4(ZFPM2):c.261G>T (p.Pro87=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3030310	NM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala)	ZFPM2 (T41A +1 more)	Single nucleotide variant (missense variant +1 more)	ZFPM2-related disorder	GLikely benign
Select item 696378	NM_012082.4(ZFPM2):c.285C>T (p.Asp95=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2593053	NM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr)	ZFPM2 (D43Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 240844	NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)	ZFPM2 (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	46,XY sex reversal 9 +1 more	GBenign
Select item 748848	NM_012082.4(ZFPM2):c.301+9G>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247031	NM_012082.4(ZFPM2):c.301+74A>G	ZFPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260177	NM_012082.4(ZFPM2):c.302-13C>T	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +3 more	GBenign
Select item 1089039	NM_012082.4(ZFPM2):c.302-5T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 1158050	NM_012082.4(ZFPM2):c.302-4G>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 3356187	NM_012082.4(ZFPM2):c.302-2A>C	ZFPM2	Single nucleotide variant (splice acceptor variant)	ZFPM2-related disorder	GLikely pathogenic
Select item 1474338	NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu)	ZFPM2 (K55E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3193302	NM_012082.4(ZFPM2):c.333A>C (p.Glu111Asp)	ZFPM2 (E58D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 6129	NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)	ZFPM2 (R112* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1706571	NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)	ZFPM2 (R117* +1 more)	Single nucleotide variant (nonsense +1 more)	Diaphragmatic hernia 3	GPathogenic
Select item 3193303	NM_012082.4(ZFPM2):c.354G>T (p.Gln118His)	ZFPM2 (Q118H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1098979	NM_012082.4(ZFPM2):c.357A>G (p.Gln119=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 3193305	NM_012082.4(ZFPM2):c.358C>T (p.Leu120Phe)	ZFPM2 (L120F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 477991	NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)	ZFPM2 (V122L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1315831	NM_012082.4(ZFPM2):c.383C>T (p.Pro128Leu)	ZFPM2 (P128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1660264	NM_012082.4(ZFPM2):c.384G>A (p.Pro128=)	ZFPM2	Single nucleotide variant (synonymous variant +1 more)	46,XY sex reversal 9	GLikely benign
Select item 2443579	NM_012082.4(ZFPM2):c.416C>A (p.Ser139Tyr)	ZFPM2 (S139Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967155	NM_012082.4(ZFPM2):c.420+15C>T	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 2185521	NM_012082.4(ZFPM2):c.420+16G>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GLikely benign
Select item 1227492	NM_012082.4(ZFPM2):c.420+210C>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3235947	GRCh38/hg38 8q23.1(chr8:105628485-105634938)	ZFPM2	Copy number loss	Diaphragmatic hernia 3	GLikely pathogenic
Select item 1371484	NM_012082.4(ZFPM2):c.421-10C>A	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GUncertain significance
Select item 1632186	NM_012082.4(ZFPM2):c.421-5T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9	GBenign
Select item 2502493	NM_012082.4(ZFPM2):c.423G>T (p.Lys141Asn)	ZFPM2 (K141N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334559	NM_012082.4(ZFPM2):c.434A>C (p.Gln145Pro)	ZFPM2 (Q145P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1097947	NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu)	ZFPM2 (V146L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1382710	NM_012082.4(ZFPM2):c.442A>G (p.Met148Val)	ZFPM2 (M95V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 477992	NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile)	ZFPM2 (M148I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 942265	NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)	ZFPM2 (K23E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2789780	NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)	ZFPM2 (D106E +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 3334561	NM_012082.4(ZFPM2):c.488A>C (p.Gln163Pro)	ZFPM2 (Q163P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2040286	NM_012082.4(ZFPM2):c.495G>A (p.Val165=)	ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1320846	NM_012082.4(ZFPM2):c.518T>C (p.Ile173Thr)	ZFPM2 (I120T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233767	NM_012082.4(ZFPM2):c.532+98A>T	ZFPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1573815	NM_012082.4(ZFPM2):c.532+28227T>C	ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +1 more	GBenign
Select item 544226	NM_012082.4(ZFPM2):c.533-4A>T	ZFPM2-AS1, ZFPM2	Single nucleotide variant (intron variant)	46,XY sex reversal 9 +1 more	GBenign
Select item 2304518	NM_012082.4(ZFPM2):c.562G>C (p.Ala188Pro)	ZFPM2, ZFPM2-AS1 (A135P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364085	NM_012082.4(ZFPM2):c.563C>T (p.Ala188Val)	ZFPM2, ZFPM2-AS1 (A135V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975446	NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)	ZFPM2, ZFPM2-AS1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1571218	NM_012082.4(ZFPM2):c.582G>A (p.Glu194=)	ZFPM2-AS1, ZFPM2	Single nucleotide variant (synonymous variant)	46,XY sex reversal 9	GLikely benign
Select item 1429169	NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser)	ZFPM2, ZFPM2-AS1 (F145S +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GUncertain significance
Select item 857370	NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)	ZFPM2, ZFPM2-AS1 (L206P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1318760	NM_012082.4(ZFPM2):c.625G>A (p.Ala209Thr)	ZFPM2-AS1, ZFPM2 (A156T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260179	NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)	ZFPM2, ZFPM2-AS1 (S210T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign

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