GALNT1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 154809	GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3	DTNA, GALNT1 +38 more	Copy number gain	See cases	GUncertain significance
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 more	Copy number gain	See cases	GPathogenic
Select item 2255763	NM_020474.4(GALNT1):c.149C>T (p.Pro50Leu)	GALNT1 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455037	NM_020474.4(GALNT1):c.156A>C (p.Gln52His)	GALNT1 (Q52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612799	NM_020474.4(GALNT1):c.497C>T (p.Pro166Leu)	GALNT1 (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342985	NM_020474.4(GALNT1):c.811C>G (p.Pro271Ala)	GALNT1 (P271A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569986	NM_020474.4(GALNT1):c.1058C>T (p.Thr353Met)	GALNT1 (T353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471998	NM_020474.4(GALNT1):c.1136A>G (p.Asn379Ser)	GALNT1 (N379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311265	NM_020474.4(GALNT1):c.1199T>C (p.Val400Ala)	GALNT1 (V400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280518	NM_020474.4(GALNT1):c.1277G>A (p.Arg426His)	GALNT1 (R426H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787464	NM_020474.4(GALNT1):c.1440C>T (p.Asp480=)	GALNT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2263233	NM_020474.4(GALNT1):c.1573G>C (p.Asp525His)	GALNT1 (D525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	not provided	GPathogenic
Select item 564521	GRCh37/hg19 18q12.2(chr18:32988821-33701451)x3	C18orf21, GALNT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442113	GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1	ASXL3, C18orf21 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 52